| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| JC | NC_000913_3_hsa_pgi | 3,815,859 | Δ82 bp | 28.9% | [rph]–[rph] | [rph], [rph] | |
| New junction evidence | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | reads (cov) | reads (cov) | score | skew | freq | annotation | gene | product | ||
| * | ? | NC_000913_3_hsa_pgi | = 3815858 | 43 (0.810) | 17 (0.340) | 13/250 | NT | 28.9% | pseudogene (24/48 nt) | rph | ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH |
| ? | NC_000913_3_hsa_pgi | 3815941 = | 44 (0.890) | pseudogene (609/669 nt) | rph | ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH | |||||
AAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCG > NC_000913_3_hsa_pgi/3815709‑3816004 | aaaCTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGC > 1:971026‑M1/1‑149 (MQ=255) aaaacCTGCTTGCTAAGCCCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTa < 2:288565/146‑1 (MQ=255) aaCACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCGGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACTAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTa < 1:777245/149‑1 (MQ=255) acCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCCCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCcgtcccctg > 1:362882‑M1/1‑140 (MQ=255) ccTGTTTGCTAAGCGCAAAGTCTATAGACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTATAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CTAGCGTCGCCTTCTGCGTCGCTACaa < 2:820160/149‑1 (MQ=255) acTGCTCGCAAAGCGCAAATTCAACAAACTGGCGCTGATACTGTTTCATTCCTTCGCCCCTCATCTTACTTTTCTACATACCAAAAAAAGGCGACTCATCAGTCGCATTAAAAATCAGTTCC‑CCAGCGCCGCCTTCTGCGTCGCTACaa < 2:491646/148‑1 (MQ=255) cTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAAt > 2:580595/1‑149 (MQ=255) gcttgctAAGCGCAAATTCAATACACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATgg < 1:644511/149‑1 (MQ=255) tgtgtaagcCCAACTTCAGTAAACTAGGGCTTATATTGTGTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATTAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCcgtcccctgcacttc < 2:1001009‑M1/145‑16 (MQ=255) tgctAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGgatt < 1:580595/149‑1 (MQ=255) gctAAGCGCAAATTAAATAAACTGGGGCTGATATGGTTTCATGGCTTCGCGCCTCATCTTACTTTTCTAAAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGgattc < 2:18125/149‑1 (MQ=255) ctAAGCTCAAATTCAATTGACTGGCGCTGATATGTTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCcgtcccctgcacttcaat < 1:621924‑M1/149‑19 (MQ=255) tAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGATAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGgattcga < 1:755976/149‑1 (MQ=255) tAAGCGCAAATTCAATAAACTGGCGCTGACATGGTTTCATGCCTTCGCACCTCATCGTACTTTTCTACAGACAAAAAAAA‑GCGACCCATCAGTCGCCTTAAAAATCAGCTTG‑CCAGCGCCGCCCTCTGCGTCGCTACCATGgatccgat > 1:202154/1‑149 (MQ=255) cAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCcgtcccctgcacttcaat > 1:84205‑M1/1‑124 (MQ=255) cAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCcgtcccctgcacttcaat < 2:84205‑M1/142‑19 (MQ=255) aaaTTCAATAAACTGGCGCTGATATGGTTCCAAACCCTGGGTCCTCATCTTACTCTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACACTGGCTTCGATTCCCCTc > 2:468143/1‑149 (MQ=255) ttCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTCTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCgg < 1:984358/149‑1 (MQ=255) tCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtc > 1:148371‑M1/1‑119 (MQ=255) caactaccTGTCGCTTACATGGTTGCATGCCTTGGCTCCTCATCTTTCTTTTCTACAGACAAAAAAAAGGCGACTCATCCGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTTCGTCGCTACATTGGATTCGATTCCCCTCCGGc < 2:407317/142‑1 (MQ=255) aaacatggcgcTGATCTGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcg < 1:226491‑M1/144‑35 (MQ=255) aaCTGGCGCTGTTATGGTTTCATGCCTTCGCTCCTCATCTTATTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCagag < 1:347032/149‑1 (MQ=255) ggCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCcaa < 2:635208/149‑1 (MQ=255) tcTGATATCGTGTCATGGCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCATTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACACTGGATTCGATTCCCCTCGGGCCAGAGCcaacaa < 2:316072/148‑1 (MQ=255) gcTGATATGGTTACATAACTTAGCTCCTCATCTTACTTTTCTACAGCCAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCcgtcccctggattctaattttccgcccggcttcggtcatcact > 2:460204‑M1/1‑106 (MQ=255) gtgtgatGGTTTTACTCCTCCGCTGCTCATCTTACATTTCTATAGACAAAAGAAA‑GCGACTCATCAGTCGCCTCAAAAATCCGTTTG‑CCAGCGCCGCCTTCTGCGTGGCTACAATGTATTCGATTCCCCTCGGGCCAGAGCAAACAAGa < 2:952585/144‑1 (MQ=255) tGATATGGTTTTATGCCTTCGCTCCTCATCTTACTTTTCTACAGAAAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGa < 2:354708/149‑1 (MQ=255) gATATTGTGTTATGACTTCGCTCCTCAACTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGAt < 2:271547/149‑1 (MQ=255) ttatTGTTTCCAGCCTTCGCTGCTTATCTTAAGTTTCTACAGACATAAAAAATGCGATTTATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCTATTTCCCTCGGGCCAGAGCCAACAAGATg < 2:630379/148‑1 (MQ=255) tGCCTTCGCTCTTCATCTTTCTTTTCTACTGACAAAAAAAAGTCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑ACAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTc < 1:260017/149‑1 (MQ=255) cTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGt < 2:297227/137‑1 (MQ=255) cTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGt > 1:297227/1‑137 (MQ=255) cTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGCGGCAGAGCCAACAAGATGAGTAGCTCTTCATgg < 2:971026/149‑1 (MQ=255) ctcctcATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGaa < 2:202154/149‑1 (MQ=255) cgtcATCTTACTTTTCTACAGAAAAAAAAAAGGCGACTCATCAGCTGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTTTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAAc < 1:136763/147‑1 (MQ=255) ctcATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcaga < 2:148371‑M1/149‑70 (MQ=255) ctcATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATTGATTCGATTCCCCTCGGGCCAGAGCCACCAAGCTGATTAGCTCTTCATGGGTGCAcc > 2:236526/1‑148 (MQ=255) ctcATCTTACTTTTCTACAGAAAAAATAAAGGCGACTCATCAGTCGCCTT‑AAAATCAGGCCGTGAAGGGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcaga < 1:484157‑M1/149‑70 (MQ=255) ttttCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcg > 2:539692‑M1/1‑70 (MQ=255) ttttCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcg < 1:539692‑M1/104‑35 (MQ=255) ttttCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCACCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCAGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTc > 1:282988/1‑149 (MQ=255) ttttCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CAAGCGCCGCCTTATGAcgaccactaaacttcaaggaatcccccgtcttcggtcatcactacgttcatgtcggtctctgcggcaaagtcttcaacg > 2:362806‑M1/1‑70 (MQ=255) ttttCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCGCAAAAATCCGTTTG‑CCAGCGCCACCTACTGCGTAGCTACAATGGATTCGATTACCCTCGGGCCAGAGCCAACAAGATGAGTACCTCTTCACCGGTCACCGCCCCGCCtac > 2:223097/1‑147 (MQ=255) atCTACAGAGAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCCCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTg < 2:927041/148‑1 (MQ=255) tACAGAC‑AAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAGTGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGGTCTTCATGGGTGAACGGCTCGCCTTCTGCCGt > 2:518848/1‑149 (MQ=255) aCAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGt < 2:525043/149‑1 (MQ=255) aGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACACTGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAACTCTTCATGTGTGAACGGCTCGCCTTCTGCCGTccc > 1:197271/1‑149 (MQ=255) gACAAAAAAAAGGCGACTCATCAGCCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTccc < 2:1000636/149‑1 (MQ=255) gACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCCCTTCagaga > 2:958322/1‑145 (MQ=255) tctctTCAGTCGTCTTAAAAATCCGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAatgat < 1:754646/148‑1 (MQ=255) aCTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAatgat < 2:996132/149‑1 (MQ=255) caGTCGGCGTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAGTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGccc < 1:83698/149‑1 (MQ=255) aGTCGCCTTAAAAATCAGTTTG‑CCAGCGCAGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGCGTGAACGGCTCGCCTTCCAAACTTCTCTGCACGTCACTGATGTGCCCg > 2:413284/1‑149 (MQ=255) cTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcatagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattc > 1:300957‑M1/1‑33 (MQ=255) cTTAAAAATCAGTTTG‑CCAGCGCCGCCTTATGCGTCGCTAAAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCg < 1:481446/149‑1 (MQ=255) aaaaTCAGTTTG‑CCAGCGCCGCCTTCTGCcgtcccccgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgac < 1:474026‑M1/149‑121 (MQ=255) tCAGTTTG‑CCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaa < 2:301802‑M1/149‑125 (MQ=255) aGTTTG‑CCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtgttcaacgtattccagatcgtaaacagcttcgcggttcacaattccgtcagaaac > 1:9997‑M1/1‑23 (MQ=255) ccAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCa > 2:358087/1‑149 (MQ=255) cAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCAt > 1:245605/1‑149 (MQ=255) cgccgcCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCCCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATAATGCGCCCGTCTTCGGTCATCACTACGTTCATGTc > 1:671039/1‑149 (MQ=255) gccTTCTGCggtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatcc < 2:685870‑M1/149‑141 (MQ=255) ccTTCTGCcgtaccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatccc > 1:617771‑M1/1‑8 (MQ=255) cTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatccct < 1:958322‑M1/149‑143 (MQ=255) ttCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgccagaaactgcggctaccatccatt > 1:946845‑M1/1‑6 (MQ=255) cTGCcgtcccctgcacttcagtgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatccctttc < 2:836577‑M1/149‑146 (MQ=255) tGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagcgtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctgccatccctttca > 2:227844‑M1/1‑3 (MQ=255) | AAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTG‑CCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCG > NC_000913_3_hsa_pgi/3815709‑3816004 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |
| Reads not counted as support for junction |
| read_name Not counted due to insufficient overlap past the breakpoint. |
| read_name Not counted due to not crossing MOB target site duplication. |